Misdiagnosed: Is There No Hope?

How common is it for others to be diagnosed with another neuro problem such as BFS or BCFS when it is really ALS? I am getting frustrated looking into certain diseases because something always pops up where someone was misdiagnosed. How awful! Does that mean there is no good way for a non-ALS diagnosis to be given correctly? I am sorry. This is just so frustrating and unbelievable in this day and age with all of our medical advances. I had twitching all over and a globus sensation for about a month when I had my EMG. The doctor said that he didn't even detect any fascilations. I then had a little trouble just swallowing regularly so they gave me an MRI and barium swallow. Clean again. Now painful legs and charley horses. I got my general care to give me a referral to an ALS specialist which I hope will happen soon.Basically I am just getting really angry. If I get a benign diagnosis, how much can I believe that? I hear that BFS and BCFS are much more common but it seems like a lot of misdiagnosis is out there. Maybe I am wrong. I would just like to hear from some of you.

jerber - on this site of 5000+ the only misdiagnosis is a few who were given ALS diagnosis and it turned out not to be. If a person does not have EMG or clean clinical it can sometimes later be diagnosed as ALS but is not missed totally by those two things. Almost always there is SOMETHING in the EMG and/or clinical that leads to further testing or longer observation time. And then, there would be weakness within a few months - in 6-7 % of ALS cases the weakness comes after twitching and shows up within months 6 for the vast majority and 8 for the outliers. If you read around on this site, an EMG will pick up ALS long before any twitching or weakness even start in the vast, vast majority of cases. Not only that, it will pick it up in any limb, even the least symptomatic limb. So rest easy.

Thank you, FernFinnegan! You've responded to so many of my inquiries! I appreciate the help!

agree with Leaflea. We had Tobes who was falsely diagnosed with ALS while having BFS, and we have Tdenver who had sinister changes on EMG far before he got clinicall weakness evident to him (but not to his neuro on clincal exam).so donot worry about misdiagnosis.twitches are only one thing to see, and to get diagnosis, you need a constellation, a clinical picture. IF there is something missed in that picture, diagnosis criteria ar not met and you do not have this or that disease then. For BFS you need widespread twitches with sometimes one side preference, no clinical weakness in 4-6 month from onset, no changes on clinical and EMG (if ever), often anxiety disorder features or history of previous heath anxiety, often extra low vitamin B amd D, no other major changes in bloodwork and other tests, variety of symptomes and presentations (various and changing types of twitching, localization, intensity etc.).For ALS you need completely other set of symptomes, and diagnostically meaningful include quick association between twitches and changes in reflexes, strength etc., certain changes in emg, obvious clinical weakness in 4-6 months after onset of twitchig as a sign of pathological motor cortex excitation, relatively stable localization of symptomes etc. Anxiety disoders are either absent in the history or may develop as a reaction on sinister diagnosis rather in form of depression, not heath anxiety.the doffernce between those two is very evident, especially for doctors.

Try to ignore any scary stories you might read about someone with a "BFS diagnosis" who ends up with an ALS result. As a community, we've visited hundreds of neuros including some of the top ALS specialists and have opportunities to ask these same questions. Its no coincidence that of the 4000+ BFSers who have come through this community, there are no confirmed cases of ALS. BFS has a VERY different set of symptoms than ALS. I remember speaking to christinasgirl123 when Tobes was suspected to have ALS but the symptoms just fit BFS so well.....end result BFS. There was another member a few years before that was a part of a chat community who had an idiot neuro who led her to believe this was probably ALS, but the symptoms were indicating BFS. Both times I (and others) held to the belief that it was actually BFS and the truth was indeed BFS.

Thank you so much for all the info everyone!I see an ALS spexialist in 10 days and I am SO nervous. They want a consultation/EMG on the same appointment. I am just worried that it'll turn up dirty since my last one (due to the swallowing and leg pain) but I have had a swallow study and an MRI and they were fine. Someone help me feel better!

It is normal to feel anxious before a big appointment. Just promise me if it is clean, you will never look back.! Until then, stay busy and recite to yourself that you had a clean EMG "I had a clean EMG" out loud. Hundreds or even thousands of us have had more than one EMG, each time normal, normal, and big surprise, normal again (I personally only had one only because my therapist will not let me get another because the reassurance seeking is so pathological and addicting really - keeping you mentally crippled). Without accountability to him, I am sure I would have raced back to my neurologist office at least four times since January. You will be fine. Please come back to report your results though, so that we may add them to the volumes upon volumes of our people who share similar symptoms of yours with completely normal neuro exam and EMG.

FernFinnegan, thank you so much for your help. I think I know in my heart, that I will be okay. It is just so stressful with the swallowing thing... but I asked my current neurologist about it and he said I shouldn't worry about Lou Gerighs. In fact, he said "That's not what this is... it is something else" so I try to keep that as my mantra. Especially because I had a clean EMG, MRI, CPK blood test and Modified Barrium Swallow in the last 2-3 months that were all normal so I am also keeping that as my mantra. I doubt if this was ALS, it would be moving so fast and it would have shown up already in one of the many tests I have had done. I guess it could just be anxiety. I can eat and drink just fine with no trouble but sometimes when I am just sitting it feels like I have to focus to swallow... Who knows though.. When my inner fat kid comes out, I sometimes forget about the swallow issue. Plus I have had times when it is not noticable... Pretty sure if it was ALS it would be really bad by now or at least obvious.

That's right. Also, it isn't "just anxiety." Anxiety is part of it, for sure. But it is probably, like he said "something else" and that something else is something difficult to grasp "neromuscular hyperexcitability." Good Luck! Sleep well and let us know how you come out - we like details

Or "neuromyotonia" I will keep you all updated for sure. Thank you again!

FYI, my ALS specialist appt is not till the 27th. I will post results.

Good luck and keep us posted. I am sure everything sill be fine!Volkmar

I saw the neuromuscular specialist and was diagnosed with Benign Cramp Fasciculation Syndrome. No ALS! He is sure the swallowing is anxiety. Who would have thought?

You have a thought from the doctor, a specialist who had seen you in person. What the thought of plain people who never had seen you means more for you?We have several stories among almost 5000 when people visiting this board were diagnosed with MND but they all had some issues, changes either in clinical picture or on EMG which lead to a diagnosis rather quickly. So I would not say about 'misdiagnosis' but this is a process of elimination of benign diagnoses (pretty well confrmed with the clinical changes).Unless ALS specialist does not see that in youo, then the best idea would be to trust the doctor.we have here a fellow named readytocheckout who has persistent swallowing issue for at least over the year I think, and he still has no MND diagnosis.

I know. I am not doubting it. It was just surprising.

but why surprising... it is well known (and I think especially for persons who read the forum) that some tightness in the throat is common in acute anxiety and people with chronic anxious conditions may have reactive edema in the mucous layer of the troat (and anywhere else too) causing some tight feeling, coughing and even pain...So in the abscence of clinical symptomes of neurodegeneration any swallowing symptomes are ususlly addressed as anxiety caused it is a common issue.

I posted this in a new thread but am not getting any responses so I am going to put it here. I was recently diagnosed with BCFS after having twitching and other various issues for 4 months. A day or so after neuro muscular specialist visit, I am finding that my tounge, left cheek and sometimes lips get in the way. My jaw also hurts today. I have read that jaw spasms can be part of BCFS. Could that be causing me to bite or is it something else or??? I am going to take everyones advice and move past the possibilty of *** since I have had two clean EMG's and a neuromuscular specialist clear me. So this is my new place.Please help. I am trying to move past ***. The specialist said he would have been able to see swallowing issues through his exam along with my MRI ans barrium swallow. I would assume that me starting to bite my cheeks a couple days after, he wpuld have been able to see that weakness too.

My best advice id to believe what you have been told and then tackle your anxiety by going out taking up a suitable sport or hobby that gets you amongst other people etc . Dont go looking for stuff that aint there or answers that dont apply to you either.

jerbear,I think it may be helpful to understand what exactly are difficulties which people with the bulbar onset have and how they differ form yours.1. Bulbar onset means that brainstem (a region somwhere in the place where your brain becomes a spine) is damaged. This place controls quite primary functions like breathing and swallowing (that is why people with bulbar onset may die before general paralysis - if the breathing center is affected). So, their main symptomes are disrupted swallowing reflex and changes related to glottal nerve denervation (voice changes, changes in tonus of the throat and mouth etc.).2. MRI would show brainstem lesions should you have a problem here. If nothing - then nothing wrong here.3. Swallowing test means your swallowing process was filmed, and doctor can see if yout swallowing reflex is preserved or not. If your throat opens under the pressure of barium mass - then you are ok. you may have thyroid issue or mucous edema or reactive esophagal spasms due to GERD - but not disrupted reflex, adn this is seen very good on the test.Biting your cheek means only that you are too tensed (jaw pain mens the same).On the living example of our two fellows who were diagnosed with MND, and on the example of our fellow readytocheckout, who complains for speech and swallowing issues for about a half-year and still is followed up and has no MND diagnosis you may see that none of more or less notable change in speech or swallowing could be missed, and they are all always followed up and investigated.Do not worry then. Or try to.

Thanks you guys. I am trying to be practical about all of this. He said he would have seen true swallowing issues on his EMG of my legs and arms. Does that sound right?